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| MUTATIONS OF KERATIN-9 IN 2 FAMILIES WITH PALMOPLANTAR EPIDERMOLYTIC HYPERKERATOSIS |
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| Author(s): BONIFAS JM, MATSUMURA K, CHEN MA, BERTHJONES J, HUTCHINSON PE, ZLOCZOWER M, FRITSCH PO, EPSTEIN EH |
| Source: JOURNAL OF INVESTIGATIVE DERMATOLOGY Volume: 103 Issue: 4 Pages: 474-477 Published: OCT 1994 |
| Times Cited: 60 References: 26 |
| Abstract: The hereditary palmoplantar keratodermas are a heterogeneous group of diseases unified by thickening of the stratum corneum of the palms and soles with consequent painful fissuring, discomfort on pressure, and resultant disability. One of the histologic patterns underlying palmoplantar hyperkeratosis is that of epidermolytic hyperkeratosis. Because that histologic pattern has been found in its generalized form to be due to keratin gene mutations, we assessed the inheritance of the form localized to the palms and soles. In each of two families studied, the mutant gene causing the disease is linked strongly to the chromosome 17 cluster of genes encoding type I keratins, and mutations are present in the conserved helix initiation region of keratin 9 in affected members of both kindreds. These data, as well as those generated recently by others, indicate that keratin gene mutations may underlie not only the generalized phenotype but also this more localized phenotype of epidermolytic hyperkeratosis and suggest one mechanism by which skin diseases can achieve their characteristic localization. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF SAN FRANCISCO, SCH MED, DEPT DERMATOL, SAN FRANCISCO, CA 94143 USA
2. LEICESTER ROYAL INFIRM, LEICESTER, LEICS ENGLAND
3. INNSBRUCK UNIV, INNSBRUCK, AUSTRIA |
| Publisher: BLACKWELL SCIENCE INC, 238 MAIN ST, CAMBRIDGE, MA 02142 |
| Subject Category: Dermatology |
| IDS Number: PL698 |
| ISSN: 0022-202X |
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